{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T15:46:07Z","timestamp":1790437567250,"version":"4.1.0"},"reference-count":81,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2005,11,1]],"date-time":"2005-11-01T00:00:00Z","timestamp":1130803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Eye Research"],"published-print":{"date-parts":[[2005,11]]},"DOI":"10.1016\/j.exer.2005.06.004","type":"journal-article","created":{"date-parts":[[2005,7,19]],"date-time":"2005-07-19T10:20:40Z","timestamp":1121768440000},"page":"503-512","source":"Crossref","is-referenced-by-count":62,"title":["Mouse mutants as models for congenital retinal disorders"],"prefix":"10.1016","volume":"81","author":[{"given":"Claudia","family":"Dalke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen","family":"Graw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.exer.2005.06.004_bib1","doi-asserted-by":"crossref","first-page":"5551","DOI":"10.1073\/pnas.97.10.5551","article-title":"A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse","volume":"97","author":"Akhmedov","year":"2000","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib2","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1167\/iovs.03-1230","article-title":"Impairment of the transient pupillary light reflex in Rpe65\u2212\/\u2212 mice and humans with leber congenital amaurosis","volume":"45","author":"Aleman","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib3","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1167\/iovs.02-0340","article-title":"An in vivo doxycycline-controlled expression system for functional studies of the retina","volume":"44","author":"Angeletti","year":"2003","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib4","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1093\/hmg\/5.1.51","article-title":"An animal model for Norrie disease (ND): gene targeting of the mouse ND gene","volume":"5","author":"Berger","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib5","doi-asserted-by":"crossref","first-page":"7553","DOI":"10.1073\/pnas.96.13.7553","article-title":"Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3","volume":"96","author":"Biel","year":"1999","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib6","doi-asserted-by":"crossref","first-page":"2955","DOI":"10.1073\/pnas.90.7.2955","article-title":"Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase","volume":"90","author":"Bowes","year":"1993","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib7","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<289::AID-AJMG8>3.0.CO;2-I","article-title":"Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9","volume":"77","author":"Bronson","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib8","first-page":"4281","article-title":"Tetracycline-inducible system for photoreceptor-specific gene expression","volume":"41","author":"Chang","year":"2000","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib9","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/S0042-6989(01)00146-8","article-title":"Retinal degeneration mutants in the mouse","volume":"42","author":"Chang","year":"2002","journal-title":"Vision Res."},{"key":"10.1016\/j.exer.2005.06.004_bib10","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1093\/hmg\/ddh173","article-title":"Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors","volume":"13","author":"Cheng","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib11","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1073\/pnas.0306520101","article-title":"Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1","volume":"101","author":"Chow","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib12","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1167\/iovs.03-0741","article-title":"Morphological characterization of the retina of the CNGA3\u2212\/\u2212Rho\u2212\/\u2212 mutant mouse lacking functional cones and rods","volume":"45","author":"Claes","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib13","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1167\/iovs.03-0561","article-title":"Electroretinography as a screening method for mutations causing retinal dysfunction in mice","volume":"45","author":"Dalke","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib14","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1006\/geno.1997.5193","article-title":"A high-resolution genetic map of the nervous locus on mouse chromosome 8","volume":"48","author":"De Jager","year":"1998","journal-title":"Genomics"},{"key":"10.1016\/j.exer.2005.06.004_bib15","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.molbrainres.2004.10.011","article-title":"Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis","volume":"132","author":"Dyer","year":"2004","journal-title":"Brain Res. Mol. Brain Res."},{"key":"10.1016\/j.exer.2005.06.004_bib16","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1126\/science.1068912","article-title":"Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1","volume":"295","author":"Fernandez-Gonzalez","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.exer.2005.06.004_bib17","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/70591","article-title":"Retinopathy and attenuated circadian entrainment in Crx-deficient mice","volume":"23","author":"Furukawa","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib18","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1086\/338190","article-title":"Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse","volume":"70","author":"Gao","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib19","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1258\/0023677011911525","article-title":"A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB\/N-derived transgenic mice","volume":"35","author":"Gimenez","year":"2001","journal-title":"Lab. Anim."},{"key":"10.1016\/j.exer.2005.06.004_bib20","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.brainres.2004.04.040","article-title":"Retinal oxidation, apoptosis and age- and sex-differences in the mnd mutant mouse, a model of neuronal ceroid lipofuscinosis","volume":"1014","author":"Guarneri","year":"2004","journal-title":"Brain Res."},{"key":"10.1016\/j.exer.2005.06.004_bib21","doi-asserted-by":"crossref","first-page":"2929","DOI":"10.1167\/iovs.03-1184","article-title":"Identification of gene expression changes associated with the progression of retinal degeneration in the rd1 mouse","volume":"45","author":"Hackam","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib22","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1136\/bjo.84.8.922","article-title":"Molecular ophthalmology: an update on animal models for retinal degenerations and dystrophies","volume":"84","author":"Hafezi","year":"2000","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.exer.2005.06.004_bib23","first-page":"3149","article-title":"Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens","volume":"41","author":"Hawes","year":"2000","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib25","doi-asserted-by":"crossref","first-page":"3649","DOI":"10.1073\/pnas.060037497","article-title":"A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)","volume":"97","author":"Hong","year":"2000","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib24","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1167\/iovs.03-0787","article-title":"Dominant, gain-of-function mutant produced by truncation of RPGR","volume":"45","author":"Hong","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib26","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1242\/dev.01571","article-title":"Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity","volume":"132","author":"Horsford","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.exer.2005.06.004_bib27","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/ng0297-216","article-title":"Retinopathy induced in mice by targeted disruption of the rhodopsin gene","volume":"15","author":"Humphries","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib28","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1093\/hmg\/9.2.155","article-title":"Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene","volume":"9","author":"Ikeda","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib29","doi-asserted-by":"crossref","first-page":"6177","DOI":"10.1073\/pnas.0500646102","article-title":"Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success","volume":"102","author":"Jacobson","year":"2005","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib30","unstructured":"Jax Notes, 2002. Genetic background effects: can your mice see? Jax Notes 485, 2. http:\/\/jaxmice.jax.org\/library\/notes\/485.pdf."},{"key":"10.1016\/j.exer.2005.06.004_bib31","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1093\/hmg\/8.10.1955","article-title":"Mouse ENU mutagenesis","volume":"8","author":"Justice","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib32","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1093\/hmg\/11.16.1879","article-title":"Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6","volume":"11","author":"Kameya","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib33","doi-asserted-by":"crossref","first-page":"4164","DOI":"10.1073\/pnas.0407698102","article-title":"Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration","volume":"102","author":"Karan","year":"2005","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib34","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1073\/pnas.10.7.329","article-title":"The inheritance of a retinal abnormality in white mice","volume":"10","author":"Keeler","year":"1924","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib35","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1038\/ng1418","article-title":"Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse","volume":"36","author":"Kulaga","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib36","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1073\/pnas.96.2.736","article-title":"Morphological, physiological, and biochemical changes in rhodopsin knockout mice","volume":"96","author":"Lem","year":"1999","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib37","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1523\/JNEUROSCI.19-01-00442.1999","article-title":"UV- and midwave-sensitive cone-driven retinal responses of the mouse: a possible phenotype for coexpression of cone photopigments","volume":"19","author":"Lyubarsky","year":"1999","journal-title":"J. Neurosci."},{"key":"10.1016\/j.exer.2005.06.004_bib38","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1073\/pnas.2235688100","article-title":"Electroporation and RNA interference in the rodent retina in vivo and in vitro","volume":"101","author":"Matsuda","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib39","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1093\/hmg\/11.9.1005","article-title":"Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene","volume":"11","author":"McNally","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib40","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/ng774","article-title":"Nrl is required for rod photoreceptor development","volume":"29","author":"Mears","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib41","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.1093\/hmg\/ddg232","article-title":"CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina","volume":"12","author":"Mehalow","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib42","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1471-2202-6-5","article-title":"Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice","volume":"6","author":"Morrow","year":"2005","journal-title":"BMC Neurosci."},{"key":"10.1016\/j.exer.2005.06.004_bib43","doi-asserted-by":"crossref","first-page":"8664","DOI":"10.1073\/pnas.0402354101","article-title":"Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly","volume":"101","author":"Mykytyn","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib44","doi-asserted-by":"crossref","first-page":"16588","DOI":"10.1073\/pnas.0405496101","article-title":"Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin","volume":"101","author":"Nishimura","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib45","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/380534a0","article-title":"A candidate gene for the mouse mutation tubby","volume":"380","author":"Noben-Trauth","year":"1996","journal-title":"Nature"},{"key":"10.1016\/j.exer.2005.06.004_bib46","doi-asserted-by":"crossref","first-page":"2514","DOI":"10.1167\/iovs.04-0065","article-title":"Modulating expression of peripherin\/rds in transgenic mice: critical levels and the effect of overexpression","volume":"45","author":"Nour","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib47","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1523\/JNEUROSCI.4756-04.2005","article-title":"Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice","volume":"25","author":"Ohlmann","year":"2005","journal-title":"J. Neurosci."},{"key":"10.1016\/j.exer.2005.06.004_bib48","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1016\/j.cub.2004.02.027","article-title":"Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1","volume":"14","author":"Ohtoshi","year":"2004","journal-title":"Curr. Biol."},{"key":"10.1016\/j.exer.2005.06.004_bib49","first-page":"152","article-title":"Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA)","volume":"11","author":"Pang","year":"2005","journal-title":"Mol. Vis."},{"key":"10.1016\/j.exer.2005.06.004_bib50","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1023\/A:1024448314608","article-title":"Electrophysiological analysis of visual function in mutant mice","volume":"107","author":"Peachey","year":"2003","journal-title":"Doc. Ophthalmol."},{"key":"10.1016\/j.exer.2005.06.004_bib51","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1002\/cne.11019","article-title":"Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis","volume":"469","author":"Pignatelli","year":"2004","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.exer.2005.06.004_bib52","doi-asserted-by":"crossref","first-page":"8322","DOI":"10.1073\/pnas.88.19.8322","article-title":"Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse","volume":"88","author":"Pittler","year":"1991","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib53","doi-asserted-by":"crossref","first-page":"5928","DOI":"10.1073\/pnas.0308302101","article-title":"Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration","volume":"101","author":"Radu","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib54","doi-asserted-by":"crossref","first-page":"13897","DOI":"10.1073\/pnas.0404197101","article-title":"Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase","volume":"101","author":"Ramamurthy","year":"2004","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib55","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/13868","article-title":"The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8","volume":"23","author":"Ranta","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib56","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/3813","article-title":"Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle","volume":"20","author":"Redmond","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib57","doi-asserted-by":"crossref","first-page":"5139","DOI":"10.1242\/dev.01300","article-title":"Transdifferentiation of the retina into pigmented cells in ocular retardation mice defines a new function of the homeodomain gene Chx10","volume":"131","author":"Rowan","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.exer.2005.06.004_bib58","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1167\/iovs.03-0332","article-title":"Delayed expression of the Crx gene and photoreceptor development in the Chx10-deficient retina","volume":"45","author":"Rutherford","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib59","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng712","article-title":"New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis","volume":"29","author":"Seeliger","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib60","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1038\/ng0604-543","article-title":"A public gene trap resource for mouse functional genomics","volume":"36","author":"Skarnes","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib61","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0014-4835(05)80115-0","article-title":"Evidence of a difference in photoreceptor cell loss in the peripheral versus posterior regions of the vitiligo (C57BL\/6J-mi(vit)\/mi(vit)) mouse retina","volume":"60","author":"Smith","year":"1995","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.exer.2005.06.004_bib62","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1172\/JCI22930","article-title":"Bone marrow-derived stem cells preserve cone vision in retinitis pigmentosa","volume":"114","author":"Smith","year":"2004","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.exer.2005.06.004_bib63","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/ng1194-256","article-title":"Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences","volume":"8","author":"Steingrimsson","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib64","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1093\/genetics\/163.1.267","article-title":"Interallelic complementation at the mouse Mitf locus","volume":"163","author":"Steingrimsson","year":"2003","journal-title":"Genetics"},{"key":"10.1016\/j.exer.2005.06.004_bib65","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1128\/MCB.20.3.878-882.2000","article-title":"Targeted deletion of the tub mouse obesity gene reveals that tubby is a loss-of-function mutation","volume":"20","author":"Stubdal","year":"2000","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.exer.2005.06.004_bib66","doi-asserted-by":"crossref","first-page":"36824","DOI":"10.1074\/jbc.M105855200","article-title":"Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors","volume":"276","author":"Swain","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.exer.2005.06.004_bib67","first-page":"589","article-title":"The relationship between opsin overexpression and photoreceptor degeneration","volume":"42","author":"Tan","year":"2001","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib68","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1093\/hmg\/11.7.755","article-title":"Novel ENU-induced eye mutations in the mouse: models for human eye disease","volume":"11","author":"Thaung","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib69","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/BF00346288","article-title":"A new allele of ocular retardation: early development and morphogenetic cell death","volume":"150","author":"Theiler","year":"1976","journal-title":"Anat. Embryol."},{"key":"10.1016\/j.exer.2005.06.004_bib70","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/338070a0","article-title":"Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)","volume":"338","author":"Travis","year":"1989","journal-title":"Nature"},{"key":"10.1016\/j.exer.2005.06.004_bib71","first-page":"652","article-title":"A gene causing ocular retardation in the mouse","volume":"10","author":"Truslove","year":"1962","journal-title":"J. Embryol. Exp. Morphol."},{"key":"10.1016\/j.exer.2005.06.004_bib72","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1126\/science.272.5264.1026","article-title":"Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase","volume":"272","author":"Tsang","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.exer.2005.06.004_bib73","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/S0042-6989(01)00213-9","article-title":"The positive role of the carboxyl terminus of the gamma subunit of retinal cGMP-phosphodiesterase in maintaining phosphodiesterase activity in vivo","volume":"42","author":"Tsang","year":"2002","journal-title":"Vision Res."},{"key":"10.1016\/j.exer.2005.06.004_bib74","doi-asserted-by":"crossref","first-page":"4169","DOI":"10.1242\/jcs.01301","article-title":"Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure","volume":"117","author":"van de Pavert","year":"2004","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib75","doi-asserted-by":"crossref","first-page":"6222","DOI":"10.1073\/pnas.092528599","article-title":"Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure","volume":"99","author":"Weber","year":"2002","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"10.1016\/j.exer.2005.06.004_bib76","unstructured":"Weber, B.H., Janssen, A., Schrewe, H., Seeliger, M., Molday, R.S., Min, S.-H., Hauswirth, W.W., 2005. Rescue of photoreceptor degeneration in a genetic mouse model for X-linked juvenile retinoschisis, 16th GfH meeting, Halle, Germany, Medizinische Genetik 1, 39."},{"key":"10.1016\/j.exer.2005.06.004_bib77","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0092-8674(00)80602-9","article-title":"Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice","volume":"98","author":"Weng","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.exer.2005.06.004_bib78","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1086\/338708","article-title":"The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein","volume":"70","author":"Wheeler","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib79","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1038\/ng1246","article-title":"Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis","volume":"35","author":"Woodruff","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.exer.2005.06.004_bib80","doi-asserted-by":"crossref","first-page":"3279","DOI":"10.1167\/iovs.04-0576","article-title":"RS-1 gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis","volume":"45","author":"Zeng","year":"2004","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.exer.2005.06.004_bib81","doi-asserted-by":"crossref","first-page":"3965","DOI":"10.1073\/pnas.0637349100","article-title":"The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis","volume":"100","author":"Zhao","year":"2003","journal-title":"Proc. Natl Acad. Sci. USA"}],"container-title":["Experimental Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483505001788?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014483505001788?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T18:07:51Z","timestamp":1706378871000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014483505001788"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11]]},"references-count":81,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["S0014483505001788"],"URL":"https:\/\/doi.org\/10.1016\/j.exer.2005.06.004","relation":{},"ISSN":["0014-4835"],"issn-type":[{"value":"0014-4835","type":"print"}],"subject":[],"published":{"date-parts":[[2005,11]]}}}